Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 4
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv 7
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv 2
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv 5
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057519090
COL4A2
0.851 0.160 13 110492105 missense variant G/A snv 7
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1060499687
GNPTAB
0.882 0.160 12 101757657 splice acceptor variant GC/AT mnv 3
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11